Caracterização bioquímica e molecular de doentes com diagnóstico clínico de Dislipidemia Familiar Combinada

A Dislipidemia Familiar Combinada (FCHL) é uma doença poligénica caracterizada por hiperlipidemia simples ou combinada, variabilidade intra-individual e intra-familiar do perfil lipídico, ApoB elevada (> 120 mg/dL) e risco elevado de doença cardiovascular (DCV). A sua causa é desconhecida mas alterações nos genes LPL, APOAIV, APOAV, APOCIII e USF1 parecem contribuir para o seu fenótipo. O objectivo deste estudo é caracterizar bioquímica e molecularmente doentes com diagnóstico clínico de FCHL. Todos os exões e promotor dos genes LPL, APOAIV, APOAV, APOCIII e regiões do gene USF1 (s1,s2) de 41 doentes foram amplificados por PCR e sequenciados. O colesterol total (CT), c-LDL, c-HDL, sdLDL, trigliceridos (TG), apoB e apoCIII foram determinados num aparelho automatizado. Em alguns doentes as sdLDL foram também analisadas por electroforese de lipoproteínas. A ApoAIV e ApoAV foram quantificadas por ELISA. Foram encontradas alterações genéticas em 37 doentes, 3 não descritas (APOAIV Q359_E362, APOAV D332fsX336 e APOCIII 3269C>A). O índex com a alteração Q359_E362del apresentou valores normais de apo AIV (15.5 mg/dL) e o índex com a alteração D332fsX336 apresentou valores baixos de apo AV (74.5 ng/mL). Os doentes estudados apresentam valores elevados de CT (285 ± 83 mg/dL), c-LDL (189 ± 85 mg/dL), TG (310 ± 253 mg/dL), e apo CIII (15 ± 4 mg/dL) e valores reduzidos de c-HDL (45 ± 11 mg/dL), sem medicação. Os valores de apoAIV (17,5 ± 10,4 mg/dL) e apoAV (150 ± 135 ng/mL) encontram-se, na maioria dos casos, no intervalo normal assim como os valores de sdLDL (35 ± 18 mg/dL), no entanto alguns casos apresentam valores acima do cut-off para DCV (35 mg/dL). A análise de sdLDL por electroforese foi realizada em 11 doentes, 9 dos quais apresentaram um perfil aterogénico. O valor médio de ApoB destes doentes era de 94 ± 43 mg/dL, mas aproximadamente 70% dos doentes estavam medicados com terapêutica hipolimiante (estatinas e/ou fibratos). Cerca de 30% dos doentes apresentavam DCV prematura. Os resultados obtidos parecem indicar que alterações nos genes estudados influenciam o fenótipo da FCHL. Os níveis séricos de apo CIII encontram-se alterados nesta dislipidemia. Doentes com FCHL, apesar de estarem medicados, apresentam valores elevados de sdLDL, evidenciando o seu elevado risco cardiovascular. A caracterização bioquímica complementa a identificação genética e permite uma melhor avaliação do risco cardiovascular do doente bem como a escolha de uma terapêutica adequada

Bosonic String and String Field Theory: a solution using Ultradistributions of Exponential Type

In this paper we show that Ultradistributions of Exponential Type (UET) are appropriate for the description in a consistent way string and string field theories. A new Lagrangian for the closed string is obtained and shown to be equivalent to Nambu-Goto's Lagrangian. We also show that the string field is a linear superposition of UET of compact support CUET). We evaluate the propagator for the string field, and calculate the convolution of two of them.Comment: 30 page

Automatic structures for semigroup constructions

We survey results concerning automatic structures for semigroup constructions, providing references and describing the corresponding automatic structures. The constructions we consider are: free products, direct products, Rees matrix semigroups, Bruck-Reilly extensions and wreath products.Comment: 22 page

An Extreme Solar Event of 20 January 2005: Properties of the Flare and the Origin of Energetic Particles

The extreme solar and SEP event of 20 January 2005 is analyzed from two perspectives. Firstly, we study features of the main phase of the flare, when the strongest emissions from microwaves up to 200 MeV gamma-rays were observed. Secondly, we relate our results to a long-standing controversy on the origin of SEPs arriving at Earth, i.e., acceleration in flares, or shocks ahead of CMEs. All emissions from microwaves up to 2.22 MeV line gamma-rays during the main flare phase originated within a compact structure located just above sunspot umbrae. A huge radio burst with a frequency maximum at 30 GHz was observed, indicating the presence of a large number of energetic electrons in strong magnetic fields. Thus, protons and electrons responsible for flare emissions during its main phase were accelerated within the magnetic field of the active region. The leading, impulsive parts of the GLE, and highest-energy gamma-rays identified with pi^0-decay emission, are similar and correspond in time. The origin of the pi^0-decay gamma-rays is argued to be the same as that of lower energy emissions. We estimate the sky-plane speed of the CME to be 2000-2600 km/s, i.e., high, but of the same order as preceding non-GLE-related CMEs from the same active region. Hence, the flare itself rather than the CME appears to determine the extreme nature of this event. We conclude that the acceleration, at least, to sub-relativistic energies, of electrons and protons, responsible for both the flare emissions and the leading spike of SEP/GLE by 07 UT, are likely to have occurred simultaneously within the flare region. We do not rule out a probable contribution from particles accelerated in the CME-driven shock for the leading GLE spike, which seemed to dominate later on.Comment: 34 pages, 14 Postscript figures. Solar Physics, accepted. A typo corrected. The original publication is available at http://www.springerlink.co

A Note on Conserved Charges of Asymptotically Flat and Anti-de Sitter Spaces in Arbitrary Dimensions

The calculation of conserved charges of black holes is a rich problem, for which many methods are known. Until recently, there was some controversy on the proper definition of conserved charges in asymptotically anti-de Sitter (AdS) spaces in arbitrary dimensions. This paper provides a systematic and explicit Hamiltonian derivation of the energy and the angular momenta of both asymptotically flat and asymptotically AdS spacetimes in any dimension D bigger or equal to 4. This requires as a first step a precise determination of the asymptotic conditions of the metric and of its conjugate momentum. These conditions happen to be achieved in ellipsoidal coordinates adapted to the rotating solutions.The asymptotic symmetry algebra is found to be isomorphic either to the Poincare algebra or to the so(D-1, 2) algebra, as expected. In the asymptotically flat case, the boundary conditions involve a generalization of the parity conditions, introduced by Regge and Teitelboim, which are necessary to make the angular momenta finite. The charges are explicitly computed for Kerr and Kerr-AdS black holes for arbitrary D and they are shown to be in agreement with thermodynamical arguments.Comment: 27 pages; v2 : references added, minor corrections; v3 : replaced to match published version forthcoming in General Relativity and Gravitatio

Four lectures on secant varieties

This paper is based on the first author's lectures at the 2012 University of Regina Workshop "Connections Between Algebra and Geometry". Its aim is to provide an introduction to the theory of higher secant varieties and their applications. Several references and solved exercises are also included.Comment: Lectures notes to appear in PROMS (Springer Proceedings in Mathematics & Statistics), Springer/Birkhause

Constant Curvature Coefficients and Exact Solutions in Fractional Gravity and Geometric Mechanics

We study fractional configurations in gravity theories and Lagrange mechanics. The approach is based on Caputo fractional derivative which gives zero for actions on constants. We elaborate fractional geometric models of physical interactions and we formulate a method of nonholonomic deformations to other types of fractional derivatives. The main result of this paper consists in a proof that for corresponding classes of nonholonomic distributions a large class of physical theories are modelled as nonholonomic manifolds with constant matrix curvature. This allows us to encode the fractional dynamics of interactions and constraints into the geometry of curve flows and solitonic hierarchies.Comment: latex2e, 11pt, 27 pages, the variant accepted to CEJP; added and up-dated reference

Haematological and biochemical parameters in Churra-da-Terra-Quente ewes from the northeast of Portugal

Hematological and biochemical parameters, including plasma electrolytes and thyroid hormones, were determined in 73 clinically healthy Churra-da-Terra-Quente ewes, a typical breed from the northeast of Portugal. The hemogram values were: erythrocytes 9.8±1.51012/L; haemoglobin 118.1±19.1g/L; haematocrit 40.8±5.9%; leukocytes 5.7±1.8109/L; and platelets 544.3±177.2109/L. The thrombin time was 17.3±1.7 seconds. The values of biochemical parameters were: total protein 76.4±6.1g/L; glucose 2.87±0.60mmol/L; total cholesterol 1.65±0.33mmol/L; aspartate aminotransferase 155.9±49.2U/L; alanine aminotransferase 23.2±9.6U/L; γ-glutamyl transferase 48.0±18.7U/L; total alkaline phosphatase 121.6±76.1U/L; glutamate dehydrogenase 6.4±3.7U/L; urea 7.32±2.22mmol/L; creatinine 123.0±54.1μmol/L; total calcium 2.53±0.25mmol/L; phosphorus 2.10±0.46mmol/L; magnesium 1.01±0.09mmol/L; sodium 152.04±3.65mmol/L; potassium 4.7±0.4mmol/L; ionized calcium 1.32±0.07mmol/L; total thyroxine 111.75±42.29nmol/L; total triiodothyronine 1.01±0.28nmol/L; free T4 11.93±1.78pmol/L; free T3 4.22±1.33pmol/L; and thyroid-stimulating hormone 0.18±0.19μIU/mL. Although differences among the Churra-da-Terra-Quente breed and other breeds may occur, the hematological and biochemical parameters, plasma electrolytes, and thyroid hormones, for this indigenous breed, were generally situated within the reference intervals previously reported for sheep